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JACC Case Rep
; 24: 102024, 2023 Oct 18.
Article
in English
| MEDLINE
| ID: mdl-37869221
ABSTRACT
Inorganic pyrophosphatase 2 (PPA2) deficiency is a genetic cause of sudden cardiac death, often triggered by viral infection or alcohol consumption. Literature on management is limited because most cases are diagnosed post mortem. We report lethal and nonlethal cardiac presentations of PPA2 deficiency in 2 adolescent sisters that resulted from a novel pathogenic PPA2 variant. (Level of Difficulty: Advanced.).